An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal with long outer branches. Clinical features are and . Death from liver disease usually occurs before age 2.
Enfermedad de Andersen /
Deficiencia de la Enzima Ramificante /
Glucogenosis 4 /